Canonical Allele Identifier: CA354762990

Gene: MRPS22

Linked Data

• MyVariant Identifiers: chr3:g.139071528A>G (hg19) ; chr3:g.139352686A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.139352686A>G , CM000665.2:g.139352686A>G	GRCh38
NC_000003.11:g.139071528A>G , CM000665.1:g.139071528A>G	GRCh37
NC_000003.10:g.140554218A>G	NCBI36
NG_012174.1:g.13668A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000478464.6:c.562A>G	ENSP00000419303.2:p.Lys188Glu
ENST00000480644.2:c.688A>G	ENSP00000420229.2:p.Lys230Glu
ENST00000492644.2:n.3026A>G
ENST00000684961.1:c.391A>G	ENSP00000508439.1:p.Lys131Glu
ENST00000686433.1:c.718A>G	ENSP00000509173.1:p.Lys240Glu
ENST00000687538.1:c.562A>G	ENSP00000508887.1:p.Lys188Glu
ENST00000688697.1:c.772A>G	ENSP00000510396.1:p.Lys258Glu
ENST00000689286.1:c.562A>G	ENSP00000509897.1:p.Lys188Glu
ENST00000689925.1:c.*113A>G	ENSP00000510082.1:n.*113A>G
ENST00000690298.1:c.*413A>G	ENSP00000509376.1:n.*413A>G
ENST00000691070.1:c.688A>G	ENSP00000509723.1:p.Lys230Glu
ENST00000692727.1:n.3294A>G
ENST00000693155.1:n.1449A>G
ENST00000310776.9:c.769A>G	ENSP00000310785.5:p.Lys257Glu
ENST00000680020.1:c.772A>G MANE Select	ENSP00000505414.1:p.Lys258Glu
ENST00000310776.8:c.772A>G	ENSP00000310785.4:p.Lys258Glu
ENST00000465056.5:c.769A>G	ENSP00000418233.1:p.Lys257Glu
ENST00000478464.5:c.649A>G	ENSP00000419303.1:p.Lys217Glu
ENST00000480644.1:c.257A>G
ENST00000480938.5:n.1426A>G
ENST00000492644.1:n.1817A>G
ENST00000495075.5:c.772A>G	ENSP00000418008.1:p.Lys258Glu
ENST00000498505.5:c.*369A>G	ENSP00000420482.1:n.*369A>G
NM_020191.2:c.772A>G	NP_064576.1:p.Lys258Glu
XM_005247640.2:c.769A>G	XP_005247697.1:p.Lys257Glu
XM_006713703.2:c.718A>G	XP_006713766.1:p.Lys240Glu
XM_011512995.1:c.649A>G	XP_011511297.1:p.Lys217Glu
XM_011512996.1:c.646A>G	XP_011511298.1:p.Lys216Glu
NM_001363857.1:c.649A>G	NP_001350786.1:p.Lys217Glu
NM_001363893.1:c.769A>G	NP_001350822.1:p.Lys257Glu
NM_020191.3:c.772A>G	NP_064576.1:p.Lys258Glu
XM_006713703.4:c.718A>G	XP_006713766.1:p.Lys240Glu
XM_011512996.2:c.646A>G	XP_011511298.1:p.Lys216Glu
NM_020191.4:c.772A>G MANE Select	NP_064576.1:p.Lys258Glu